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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-209629834-A-ATTGTCACACACACCTCCATATGCCCCCTGGCTGGCGGCAAACACAGCGGGGTCAAAGTGACATGTCTCTGAGTGCCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=209629834&ref=A&alt=ATTGTCACACACACCTCCATATGCCCCCTGGCTGGCGGCAAACACAGCGGGGTCAAAGTGACATGTCTCTGAGTGCCC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 209629834,
"ref": "A",
"alt": "ATTGTCACACACACCTCCATATGCCCCCTGGCTGGCGGCAAACACAGCGGGGTCAAAGTGACATGTCTCTGAGTGCCC",
"effect": "frameshift_variant",
"transcript": "ENST00000356082.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "KGTQRHVTLTPLCLPPARGHMEVCVT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.958_1034dupGGGCACTCAGAGACATGTCACTTTGACCCCGCTGTGTTTGCCGCCAGCCAGGGGGCATATGGAGGTGTGTGTGACAA",
"hgvs_p": "p.Asn345fs",
"transcript": "NM_000228.3",
"protein_id": "NP_000219.2",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1172,
"cds_start": 1034,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": "ENST00000356082.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "KGTQRHVTLTPLCLPPARGHMEVCVT?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.958_1034dupGGGCACTCAGAGACATGTCACTTTGACCCCGCTGTGTTTGCCGCCAGCCAGGGGGCATATGGAGGTGTGTGTGACAA",
"hgvs_p": "p.Asn345fs",
"transcript": "ENST00000356082.9",
"protein_id": "ENSP00000348384.3",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 1172,
"cds_start": 1034,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": "NM_000228.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "KGTQRHVTLTPLCLPPARGHMEVCVT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.958_1034dupGGGCACTCAGAGACATGTCACTTTGACCCCGCTGTGTTTGCCGCCAGCCAGGGGGCATATGGAGGTGTGTGTGACAA",
"hgvs_p": "p.Asn345fs",
"transcript": "ENST00000367030.7",
"protein_id": "ENSP00000355997.3",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 1172,
"cds_start": 1034,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "KGTQRHVTLTPLCLPPARGHMEVCVT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.958_1034dupGGGCACTCAGAGACATGTCACTTTGACCCCGCTGTGTTTGCCGCCAGCCAGGGGGCATATGGAGGTGTGTGTGACAA",
"hgvs_p": "p.Asn345fs",
"transcript": "ENST00000391911.5",
"protein_id": "ENSP00000375778.1",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 1172,
"cds_start": 1034,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "KGTQRHVTLTPLCLPPARGHMEVCVT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.958_1034dupGGGCACTCAGAGACATGTCACTTTGACCCCGCTGTGTTTGCCGCCAGCCAGGGGGCATATGGAGGTGTGTGTGACAA",
"hgvs_p": "p.Asn345fs",
"transcript": "NM_001017402.2",
"protein_id": "NP_001017402.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1172,
"cds_start": 1034,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "KGTQRHVTLTPLCLPPARGHMEVCVT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.958_1034dupGGGCACTCAGAGACATGTCACTTTGACCCCGCTGTGTTTGCCGCCAGCCAGGGGGCATATGGAGGTGTGTGTGACAA",
"hgvs_p": "p.Asn345fs",
"transcript": "NM_001127641.1",
"protein_id": "NP_001121113.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1172,
"cds_start": 1034,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "KGTQRHVTLTPLCLPPARGHMEVCVT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.958_1034dupGGGCACTCAGAGACATGTCACTTTGACCCCGCTGTGTTTGCCGCCAGCCAGGGGGCATATGGAGGTGTGTGTGACAA",
"hgvs_p": "p.Asn345fs",
"transcript": "XM_005273124.5",
"protein_id": "XP_005273181.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1172,
"cds_start": 1034,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 5295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "KGTQRHVTLTPLCLPPARGHMEVCVT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.766_842dupGGGCACTCAGAGACATGTCACTTTGACCCCGCTGTGTTTGCCGCCAGCCAGGGGGCATATGGAGGTGTGTGTGACAA",
"hgvs_p": "p.Asn281fs",
"transcript": "XM_017001272.3",
"protein_id": "XP_016856761.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 1108,
"cds_start": 842,
"cds_end": null,
"cds_length": 3327,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "KGTQRHVTLTPLCLPPARGHMEVCVT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"hgvs_c": "c.766_842dupGGGCACTCAGAGACATGTCACTTTGACCCCGCTGTGTTTGCCGCCAGCCAGGGGGCATATGGAGGTGTGTGTGACAA",
"hgvs_p": "p.Asn281fs",
"transcript": "XM_047420351.1",
"protein_id": "XP_047276307.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 1108,
"cds_start": 842,
"cds_end": null,
"cds_length": 3327,
"cdna_start": 2217,
"cdna_end": null,
"cdna_length": 5103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LAMB3",
"gene_hgnc_id": 6490,
"dbsnp": "rs1553277702",
"frequency_reference_population": 0.000019154624,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000191546,
"gnomad_genomes_af": 0.000269336,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 41,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.737,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PVS1",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000356082.9",
"gene_symbol": "LAMB3",
"hgnc_id": 6490,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.958_1034dupGGGCACTCAGAGACATGTCACTTTGACCCCGCTGTGTTTGCCGCCAGCCAGGGGGCATATGGAGGTGTGTGTGACAA",
"hgvs_p": "p.Asn345fs"
}
],
"clinvar_disease": " non-Herlitz type,Amelogenesis imperfecta type 1A,Junctional epidermolysis bullosa,Junctional epidermolysis bullosa gravis of Herlitz,LAMB3-related disorder,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:7",
"phenotype_combined": "not provided|Junctional epidermolysis bullosa gravis of Herlitz|Junctional epidermolysis bullosa gravis of Herlitz;Junctional epidermolysis bullosa, non-Herlitz type;Amelogenesis imperfecta type 1A|Junctional epidermolysis bullosa, non-Herlitz type|LAMB3-related disorder|Junctional epidermolysis bullosa",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}